Brother saves life of poorly sister with rare premature ageing disease
A five-year-old girl with a one in a million disease has had her life saved thanks to the selfless actions of her seven-year-old brother.
Little Phoebe Roskell has a rare condition that makes her cells and organs age extremely rapidly.
But she has been given a chance at life by her brother Woody, who has donated his bone marrow in a stem cell transplant.
Phoebe, from Catterall near Garstang, suffers from Dyskeratosis Congenita (DC), a complex and incurable disorder that prematurely ages cells and organs.
Mum Jacquie, a former NHS nurse: “Just before May last year Phoebe become unwell getting regular high temperatures.
“She was tired and getting out of bed not wanting to do anything. I took her to the doctor who said that because she’s so poorly she should get her bloods done.
“She looked very pale so we took her to Royal Preston Hospital’s blood clinic.”
There was a delay in the results because of last year’s NHS cyber attack, but soon afterwards doctors spoke to mum Jacquie and dad Shaun and gave them the devastating news.
Jacquie and Shaun were told that there was a ‘99 per cent chance’ of leukaemia being the cause of the problem, but tests showed that wasn’t the case and in July last year, Phoebe was discovered to have been suffering from DC.
It came to light that Phoebe’s telomeres – the ends of chromosomes that protect cells and DNA – were extremely short and what you would expect from someone aged 100 years old.
It meant that Phoebe’s cells for the likes of her blood, bone marrow, skin and nails, couldn’t regenerate normally.
For Phoebe, a cheerful little girls who enjoys drawing, painting her nails, dancing and making new friends, the most life threatening aspect of the condition has been the threat of bone marrow failure.
But thanks to the selfless efforts of her brother Woody Roskell, who will be eight next week, Phoebe has been given a new lease of life.
She has received what family have labelled as ‘life-saving’ treatment when Woody donated his own bone marrow to help in his younger sister’s fight.
Woody underwent the transplant in November, which involved a transplant of six million stem cells to Phoebe.
So far they have been accepted by Phoebe, who now produces Woody’s health bone marrow instead of her own.
Grandmother Christine Barton said: “Woody doesn’t quite understand the impact of his amazing deed just yet. He seems so modest.”
She added: “The condition came out of the blue and hit us between the eyes. It needs bringing to more people’s attention.”
Phoebe was in complete isolation for three weeks afterwards, with her being allowed visits just in time for Christmas.”
“Phoebe was very poorly, I wouldn’t wish this on my worst enemy after seeing my child go through this”, Jacquie explained.
“It’s hard for children to understand but Woody knows he saved Phoebe’s life. He’s a real life superhero and always will be.”
After nine very long weeks, Phoebe came home and is recovering well in semi-isolation, which could last until the summer.
The family are now raising money to fight the condition and their GoFundMe page has more than Â£5,000 to its name.
Jacquie said: “Fingers crossed the bone marrow failure is cured but DC is currently incurable.
“For Phoebe moving forward, we don’t know what’s round the corner.“I hope something can happen in Phoebe’s lifetime. We desperately need more research.”
The GoFundMe page set up in Phoebe’s name to fight DC can be found here.
What is DC?
Dyskeratosis congenita is an inherited condition which causes premature ageing of cells and organs. This condition can lead to bone marrow failure, anaemia, low white blood count and platelet-blood clotting problems, lung fibrosis, liver cirrhosis and other conditions.
Charities such as UK-based DC Action focus on improving the understanding and treatment of DC across the country.
Co-founder of and Medical Adviser at DC Action, Dr Hilary Longhurst, pictured, said: “We are all hoping and praying that all goes well for Phoebe. Heartbreakingly, Dyskeratosis Congenita and other telomere disorders are so under recognised that many of those affected die without even knowing the diagnosis - which of course means that they can’t get the right treatment.
“This is a particular problem if the first symptoms involve lung or liver fibrosis rather than the skin or blood, or if the person involved is an adult. I suspect that the condition may be much much more common than we realise.
“There is so much that we need to look into regarding potential treatments and best care but until more people recognise the condition and join together to beat it, it’s going to continue to be an uphill struggle.”
Phoebe’s parents Jacquie and Shaun are waiting to hear if they are carriers of the gene mutation Phoebe has, identified as ‘TINF2’.